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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SLC25A15
solute carrier family 25 member 15
Chromosome 13 Β· 13q14.11
NCBI Gene: 10166Ensembl: ENSG00000102743.17HGNC: HGNC:10985UniProt: Q9Y619
54PubMed Papers
21Diseases
0Drugs
83Pathogenic Variants
FUNCTIONAL ROLE
Transporter
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
L-ornithine transmembrane transporter activityL-lysine transmembrane transporter activityantiporter activityL-arginine transmembrane transporter activityornithine translocase deficiencyHyperornithinemia-hyperammonemia-homocitrullinuriagenetic disorderinflammatory bowel disease
✦AI Summary

SLC25A15 encodes a mitochondrial ornithine-citrulline antiporter that plays a critical role in the urea cycle by facilitating electroneutral exchange of cytosolic ornithine for mitochondrial citrulline plus a proton 12. The transporter also mediates transport of lysine and arginine through antiport mechanisms 1. By connecting cytosolic and intramitochondrial urea cycle reactions, SLC25A15 is essential for ammonia detoxification and nitrogen metabolism. Loss-of-function mutations in SLC25A15 cause hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome, a rare autosomal recessive urea cycle disorder characterized by impaired mitochondrial ornithine transport, hyperammonemia, and homocitrulline excretion 34. Patients present with variable phenotypes including developmental delay, seizures, ataxia, and hepatic dysfunction 3. Early dietary management with protein restriction and ammonia scavengers can improve outcomes 3. Beyond monogenic disease, SLC25A15 functions as a tumor suppressor in hepatocellular carcinoma (HCC). Hypoxia-induced SLC25A15 downregulation promotes HCC progression through reprogramming of glutamine metabolism via SLC1A5 regulation, and SLC25A15-deficient HCC cells show increased sensitivity to glutaminase inhibitors and anti-PD-L1 therapy 5. Additionally, SLC25A15 upregulation drives liver metastasis formation in ESR1-mutated breast cancer through urea cycle dysregulation 6. Rare disease experts recommend SLC25A15 screening in newborn genome sequencing programs 7.

Sources cited
1
SLC25A15 is a mitochondrial ornithine-citrulline antiporter and its function in the urea cycle
PMID: 12807890
2
SLC25A15 catalyzes electroneutral ornithine-citrulline exchange and urea cycle function
PMID: 22262851
3
SLC25A15 mutations cause HHH syndrome with clinical presentation including hyperammonemia, developmental delay, and seizures
PMID: 25874378
4
Pathogenic SLC25A15 variants cause HHH syndrome with variable clinical presentations and genetic heterogeneity
PMID: 39597062
5
SLC25A15 acts as tumor suppressor in HCC by regulating glutamine metabolism and response to immunotherapy
PMID: 38450598
6
SLC25A15 upregulation drives liver metastasis formation in ESR1-mutated breast cancer through urea cycle dysregulation
PMID: 41484388
7
Rare disease experts recommend SLC25A15 inclusion in newborn genome sequencing for treatable disorders
PMID: 37155167
Disease Associationsβ“˜21
ornithine translocase deficiencyOpen Targets
0.85Strong
Hyperornithinemia-hyperammonemia-homocitrullinuriaOpen Targets
0.84Strong
genetic disorderOpen Targets
0.45Moderate
inflammatory bowel diseaseOpen Targets
0.42Moderate
neuroinflammatory disorderOpen Targets
0.35Weak
cardiac arrhythmiaOpen Targets
0.34Weak
Hereditary breast and ovarian cancer syndromeOpen Targets
0.34Weak
hereditary breast ovarian cancer syndromeOpen Targets
0.34Weak
Hashimoto's thyroiditisOpen Targets
0.27Weak
neurodegenerative diseaseOpen Targets
0.23Weak
ulcerative colitisOpen Targets
0.12Weak
Abnormal facial shapeOpen Targets
0.12Weak
Intellectual disabilityOpen Targets
0.12Weak
hepatocellular carcinomaOpen Targets
0.09Suggestive
osteoarthritis, hipOpen Targets
0.08Suggestive
bladder transitional cell carcinomaOpen Targets
0.07Suggestive
posterior cortical atrophyOpen Targets
0.07Suggestive
cataractOpen Targets
0.06Suggestive
trauma complicationOpen Targets
0.06Suggestive
Crohn's diseaseOpen Targets
0.06Suggestive
Hyperornithinemia-hyperammonemia-homocitrullinuria syndromeUniProt
Pathogenic Variants83
NM_014252.4(SLC25A15):c.535C>T (p.Arg179Ter)Pathogenic
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome|SLC25A15-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 179
NM_014252.4(SLC25A15):c.337G>T (p.Gly113Cys)Pathogenic
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
β˜…β˜…β˜†β˜†2026β†’ Residue 113
NM_014252.4(SLC25A15):c.658G>A (p.Gly220Arg)Pathogenic
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
β˜…β˜…β˜†β˜†2026β†’ Residue 220
NM_014252.4(SLC25A15):c.538G>A (p.Glu180Lys)Pathogenic
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 180
NM_014252.4(SLC25A15):c.823C>T (p.Arg275Ter)Pathogenic
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 275
NM_014252.4(SLC25A15):c.408del (p.Met137fs)Pathogenic
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 137
NM_014252.4(SLC25A15):c.22C>T (p.Gln8Ter)Pathogenic
not provided|Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome|Cardiac arrhythmia|Hereditary breast ovarian cancer syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 8
NM_014252.4(SLC25A15):c.113_116dup (p.Phe40fs)Pathogenic
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 40
NM_014252.4(SLC25A15):c.59del (p.Gly20fs)Pathogenic
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 20
NM_014252.4(SLC25A15):c.514G>T (p.Gly172Ter)Pathogenic
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 172
NM_014252.4(SLC25A15):c.824G>A (p.Arg275Gln)Likely pathogenic
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 275
NM_014252.4(SLC25A15):c.523dup (p.Ser175fs)Pathogenic
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 175
NM_014252.4(SLC25A15):c.79G>A (p.Gly27Arg)Pathogenic
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 27
NM_014252.4(SLC25A15):c.553TTC[3] (p.Phe188del)Pathogenic
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome|not provided|SLC25A15-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 188
NM_014252.4(SLC25A15):c.622+1G>APathogenic
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
β˜…β˜…β˜†β˜†2025
NM_014252.4(SLC25A15):c.337G>A (p.Gly113Ser)Pathogenic
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome|not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 113
NM_014252.4(SLC25A15):c.95C>G (p.Thr32Arg)Pathogenic
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 32
NM_014252.4(SLC25A15):c.446del (p.Ser149fs)Pathogenic
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 149
NM_014252.4(SLC25A15):c.44C>T (p.Ala15Val)Pathogenic
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 15
NM_014252.4(SLC25A15):c.98_101del (p.Met33fs)Pathogenic
not provided|Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 33
View on ClinVar β†—
Related Genes
HNRNPA2B1Protein interaction94%SLC25A2Shared pathway75%MTCH1Protein interaction74%SLC66A1Shared pathway67%NAGSProtein interaction53%SLC25A29Shared pathway50%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
16%
Brain
10%
Heart
8%
Ovary
4%
Lung
4%
Gene Interaction Network
Click a node to explore
SLC25A15HNRNPA2B1SLC25A2MTCH1SLC66A1NAGSSLC25A29
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9Y619
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.03LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.73 [0.53–1.03]
RankingsWhere SLC25A15 stands among ~20K protein-coding genes
  • #8,372of 20,598
    Most Researched54
  • #899of 5,498
    Most Pathogenic Variants83 Β· top quartile
  • #10,120of 17,882
    Most Constrained (LOEUF)1.03
Genes detectedSLC25A15
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Deficiency in SLC25A15, a hypoxia-responsive gene, promotes hepatocellular carcinoma by reprogramming glutamine metabolism.
PMID: 38450598
J Hepatol Β· 2024
1.00
2
The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
PMID: 25874378
Orphanet J Rare Dis Β· 2015
0.90
3
Perspectives of Rare Disease Experts on Newborn Genome Sequencing.
PMID: 37155167
JAMA Netw Open Β· 2023
0.80
4
Epigenetic and Tumor Microenvironment for Prognosis of Patients with Gastric Cancer.
PMID: 37238607
Biomolecules Β· 2023
0.70
5
SLC gene mutations and pediatric neurological disorders: diverse clinical phenotypes in a Saudi Arabian population.
PMID: 34797406
Hum Genet Β· 2022
0.60